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Updated: Mar 13, 2026

Measuring Single-Cell Mitochondrial DNA Copy Number and Heteroplasmy Using Digital Droplet Polymerase Chain Reaction
Published on: July 12, 2022
Difference in mitochondrial DNA copy number in peripheral blood cells between probands with autism spectrum disorders
Hee Jeong Yoo1, Mira Park2, Soon Ae Kim3
1a Department of Neuropsychiatry , Seoul National University Bungdang Hospital , Seongnam , Korea.
Objectives:
Several reports suggest that mitochondrial dysfunction is involved in the pathophysiology of autism spectrum disorders (ASD). Therefore, mitochondrial DNA (mtDNA) copy number, a common biomarker for mitochondrial dysfunction, might be associated with ASD phenotypes.
Methods:
Relative mtDNA copy number in the peripheral blood cells of 100 Korean ASD patients and their unaffected sib-pairs was measured by quantitative polymerase chain reaction (qPCR).
Results:
ASD patients had significantly higher relative mtDNA copy numbers than their unaffected sibs (P = .042). In addition, there were statistically significant correlations between mtDNA copy number and clinical phenotypes for language and communication in ASD.
Conclusions:
Our findings suggest that mitochondrial dysfunction and elevated mtDNA copy number may be a biological subtype of ASD that is related to the phenotype for communication.
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